### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PDE4D)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"PDE4D"	"phosphodiesterase 4D, cAMP-specific"	"5"	"q12"	"unknown"	"NG_027957.1"	"UD_132085264011"	""	"http://www.LOVD.nl/PDE4D"	""	"1"	"8783"	"5144"	"600129"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/PDE4D_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2016-05-09 21:46:34"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00024128"	"PDE4D"	"transcript variant 3"	"001"	"NM_001165899.1"	""	"NP_001159371.1"	""	""	""	"-246"	"7873"	"2247"	"59783925"	"58264865"	"00006"	"2016-05-09 21:44:22"	""	""
"00025633"	"PDE4D"	"transcript variant 1"	"002"	"NM_001104631.1"	""	"NP_001098101.1"	""	""	""	"-172"	"8056"	"2430"	"59189621"	"58264865"	"00006"	"2021-08-16 13:40:33"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"02607"	"STRK1"	"stroke, susceptibility to, type 1 (STRK-1)"	""	"606799"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03686"	"ACRDYS2"	"acrodysostosis, with/without hormone resistance, type 2"	"AD"	"614613"	""	"flat anterior facies, mid-face hypoplasia, hypertelorism, small nose, depressed nasal bridge, short columella, long philtrum, prominent chin; no seizure (-HP:0001250); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); severe brachydactyly, skeletal dysplasia, multiple hormone resistance"	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2023-01-03 20:03:14"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"PDE4D"	"02607"
"PDE4D"	"03686"


## Individuals ## Do not remove or alter this header ##
## Count = 44
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00064690"	""	""	""	"1"	""	"00006"	"{PMID:Michot 2012:22464250}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00064691"	""	""	""	"1"	""	"00006"	"{PMID:Michot 2012:22464250}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00064692"	""	""	""	"1"	""	"01600"	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	"2-generation family, 1 affected (M)"	"M"	""	"United States"	""	"0"	""	""	""	""
"00064693"	""	""	""	"1"	""	"00006"	"{PMID:Michot 2012:22464250}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00064694"	""	""	""	"1"	""	"00006"	"{PMID:Lee 2012:22464252}"	"carries also NM_001195220.1(ZNF783_v001):c.187C>T"	"F"	""	"United States"	""	"0"	""	""	""	""
"00064695"	""	""	""	"1"	""	"01600"	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	"2-generation family, 1 affected (F)"	"F"	""	"United States"	""	"0"	""	""	""	""
"00064696"	""	""	""	"4"	""	"01600"	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	"2-generation family, 4 affecteds (F, 3M)"	"F;M"	""	"United States"	""	"0"	""	""	""	""
"00064697"	""	""	""	"1"	""	"01600"	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	"2-generation family, 1 affected (F)"	"F"	""	"United States"	""	"0"	""	""	""	""
"00064698"	""	""	""	"1"	""	"00006"	"{PMID:Michot 2012:22464250}"	""	"M"	""	"France"	""	"0"	""	""	""	""
"00064699"	""	""	""	"1"	""	"00006"	"{PMID:Lee 2012:22464252}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00064700"	""	""	""	"1"	""	"00006"	"{PMID:Lee 2012:22464252}"	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00064701"	""	""	""	"1"	""	"01600"	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	"2-generation family, 1 affected (M)"	"M"	""	"United States"	""	"0"	""	""	""	""
"00080728"	""	""	""	"1"	""	"01200"	"{PMID:Elli et al.2016:26763073}"	"affected twins (male+female)"	"-"	"no"	"(Italy)"	""	"0"	""	""	""	""
"00080729"	""	""	""	"1"	""	"01200"	"{PMID:Elli et al.2016:26763073}"	""	"F"	"no"	"(Italy)"	""	"0"	""	""	""	""
"00080730"	""	""	""	"1"	""	"01200"	"{PMID:Elli et al.2016:26763073}"	""	"M"	"no"	"(Italy)"	""	"0"	""	""	""	""
"00080732"	""	""	""	"1"	""	"01200"	"{PMID:Elli et al.2016:26763073}"	""	"M"	"no"	"(Italy)"	""	"0"	""	""	""	""
"00080740"	""	""	""	"1"	""	"01200"	"{PMID:Mitsui et al.2014:25044890}"	""	"F"	"?"	""	""	"0"	""	""	""	""
"00080741"	""	""	""	"1"	""	"01200"	"{PMID:Mitsui et al.2014:25044890}"	""	"F"	"?"	""	""	"0"	""	""	""	""
"00080759"	""	""	""	"1"	""	"01200"	"{PMID:Mitsui et al.2014:25044890}"	""	"F"	"?"	""	""	"0"	""	""	""	""
"00080760"	""	""	""	"1"	""	"01200"	"{PMID:Lindstrand et al.2014:24203977}"	""	"M"	"-"	""	""	"0"	""	""	""	""
"00080761"	""	""	""	"1"	""	"01200"	"{PMID:Lindstrand et al.2014:24203977}"	""	"M"	"-"	""	""	"0"	""	""	""	""
"00080762"	""	""	""	"1"	""	"01200"	"{PMID:Lindstrand et al.2014:24203977}"	""	"M"	"-"	""	""	"0"	""	""	""	""
"00080764"	""	""	""	"1"	""	"01200"	"{PMID:Lindstrand et al.2014:24203977}"	""	"M"	"-"	""	""	"0"	""	""	""	""
"00080765"	""	""	""	"1"	""	"01200"	"{PMID:Lindstrand et al.2014:24203977}"	""	"F"	"-"	""	""	"0"	""	""	""	""
"00080766"	""	""	""	"1"	""	"01200"	"{PMID:Linglart et al.2012:23043190}"	""	"F"	"-"	""	""	"0"	""	""	""	""
"00080767"	""	""	""	"1"	""	"01200"	"{PMID:Linglart et al.2012:24203977}"	""	"F"	"-"	""	""	"0"	""	""	""	""
"00080769"	""	""	""	"1"	""	"01200"	"{PMID:Kaname et al.2014:25064455}"	"familial case"	"-"	"-"	""	""	"0"	""	""	""	""
"00080770"	""	""	""	"1"	""	"01200"	"{PMID:Kaname et al.2014:25064455}"	""	"M"	"-"	""	""	"0"	""	""	""	""
"00080771"	""	""	""	"1"	""	"01200"	"{PMID:Kaname et al.2014:25064455}"	""	"F"	"-"	""	""	"0"	""	""	""	""
"00080772"	""	""	""	"1"	""	"01200"	"{PMID:Kaname et al.2014:25064455}"	""	"M"	"-"	""	""	"0"	""	""	""	""
"00080773"	""	""	""	"1"	""	"01200"	"{PMID:Kaname et al.2014:25064455}"	"familial case"	"-"	"-"	""	""	"0"	""	""	""	""
"00100343"	""	""	""	"1"	""	"01744"	"NOT PUBLISHED"	""	"F"	""	"Spain"	""	"0"	""	""	""	""
"00100374"	""	""	""	"2"	""	"01907"	"NOT PUBLISHED"	"2-generation family, 2 affecteds (mother and son)"	"F"	""	"(France)"	""	"0"	""	""	""	""
"00100375"	""	""	""	"1"	""	"01907"	"NOT PUBLISHED"	""	"M"	""	"(France)"	""	"0"	""	""	""	""
"00100376"	""	""	""	"2"	""	"01907"	"NOT PUBLISHED"	"2-generation family, 2 affecteds (mother and son)"	"M"	""	"(France)"	""	"0"	""	""	""	""
"00100377"	""	""	""	"1"	""	"01907"	"NOT PUBLISHED"	""	"F"	""	"(France)"	""	"0"	""	""	""	""
"00100378"	""	""	""	"1"	""	"01907"	"NOT PUBLISHED"	""	"M"	""	"(France)"	""	"0"	""	""	""	""
"00100379"	""	""	"00100376"	"1"	""	"01907"	"NOT PUBLISHED"	""	"F"	""	"(France)"	""	"0"	""	""	""	""
"00100380"	""	""	"00100374"	"1"	""	"01907"	"NOT PUBLISHED"	""	"M"	""	"(France)"	""	"0"	""	""	""	""
"00131945"	""	""	""	"1"	""	"01744"	"NOT PUBLISHED"	""	"F"	""	"Portugal"	""	"0"	""	""	""	""
"00293886"	""	""	""	"9"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309889"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00315859"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	"Germany"	""	"0"	""	""	""	"170352"
"00380409"	""	""	""	"1"	""	"00006"	"{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}"	""	""	""	""	""	"0"	""	""	""	"Pat14"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 44
"{{individualid}}"	"{{diseaseid}}"
"00064690"	"03686"
"00064691"	"03686"
"00064692"	"03686"
"00064693"	"03686"
"00064694"	"03686"
"00064695"	"03686"
"00064696"	"00198"
"00064697"	"03686"
"00064698"	"03686"
"00064699"	"03686"
"00064700"	"03686"
"00064701"	"00198"
"00080728"	"03686"
"00080729"	"03686"
"00080730"	"03686"
"00080732"	"03686"
"00080740"	"03686"
"00080741"	"03686"
"00080759"	"03686"
"00080760"	"03686"
"00080761"	"03686"
"00080762"	"03686"
"00080764"	"03686"
"00080765"	"03686"
"00080766"	"03686"
"00080767"	"03686"
"00080769"	"03686"
"00080770"	"03686"
"00080771"	"03686"
"00080772"	"03686"
"00080773"	"03686"
"00100343"	"03686"
"00100374"	"03686"
"00100375"	"03686"
"00100376"	"03686"
"00100377"	"03686"
"00100378"	"03686"
"00100379"	"03686"
"00100380"	"03686"
"00131945"	"03686"
"00293886"	"00198"
"00309889"	"00198"
"00315859"	"03686"
"00380409"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02607, 03686, 05611
## Count = 35
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000050888"	"03686"	"00064690"	"00006"	"Familial, autosomal dominant"	"4y"	"advanced bone age; nasal hypoplasia; depressed nasal bridge; prominent mandible; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay, psychomotoer delay (walked at 17m of age); intracranial hypertension with thrombophlebitis of the transverse sinus and jugular"	""	""	""	""	""	""	""	""	""	""	""
"0000050889"	"03686"	"00064691"	"00006"	"Familial, autosomal dominant"	"7y"	"intrauterine growth retardation; advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment; intracranial hypertension with jugular stenosis requiring derivation"	""	""	""	""	""	""	""	""	""	""	""
"0000050890"	"03686"	"00064692"	"01600"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000050891"	"03686"	"00064693"	"00006"	"Familial, autosomal dominant"	"4y"	"advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay requiring orthophony, fine-motor-skill impairment"	""	""	""	""	""	""	""	""	""	""	""
"0000050892"	"03686"	"00064694"	"00006"	"Familial, autosomal dominant"	""	"small hands, midface hypoplasia"	""	""	""	""	""	""	""	""	""	""	""
"0000050893"	"03686"	"00064695"	"01600"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000050894"	"00198"	"00064696"	"01600"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000050895"	"03686"	"00064697"	"01600"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000050896"	"03686"	"00064698"	"00006"	"Familial, autosomal dominant"	"3y"	"advanced bone age; nasal hypoplasia; depressed nasal bridge; severe brachydactyly; short metatarsals, metacarpals, and phalanges; cone-shaped epiphyses; speech delay, psychomotor delay requiring physiotherapy"	""	""	""	""	""	""	""	""	""	""	""
"0000050897"	"03686"	"00064699"	"00006"	"Familial, autosomal dominant"	""	"mild short stature, small hands, midface hypoplasia, lumbar stenosis; significant developmental disability; cryptorchidism"	""	""	""	""	""	""	""	""	""	""	""
"0000050898"	"03686"	"00064700"	"00006"	"Familial, autosomal dominant"	""	"mild short stature, small hands, midface hypoplasia, lumbar stenosis; mild developmental disability; congenital hypothyroidism"	""	""	""	""	""	""	""	""	""	""	""
"0000050899"	"00198"	"00064701"	"01600"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060303"	"03686"	"00080728"	"01200"	"Familial, autosomal dominant"	""	"PTH resistance, TSH resistance, obesity, mental retardation, craniosynostosis"	""	"07y"	""	""	""	""	""	""	""	""	""
"0000060305"	"03686"	"00080729"	"01200"	"Unknown"	""	"TSH resistance, short stature, obesity, brachydactily, mental rtardation cholelithiasis"	""	"47y"	""	""	""	""	""	""	""	""	""
"0000060306"	"03686"	"00080730"	"01200"	"Familial, autosomal dominant"	""	"short stature, obesity, dysmorphic facies, brachydactily, mental retardation"	""	"04y"	""	""	""	""	""	""	""	""	""
"0000060307"	"03686"	"00080732"	"01200"	"-"	""	"short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cryptorchidism, vesicoureteral reflux"	""	"29y"	""	""	""	""	""	""	""	""	""
"0000060317"	"03686"	"00080740"	"01200"	"Unknown"	""	"PTH resistance, dysmorphic facies, btachydactily, shypo-deformity of knees"	""	"03y"	""	""	""	""	""	""	""	""	""
"0000060318"	"03686"	"00080741"	"01200"	"Unknown"	""	"short stature, dysmorphic facies, brachydactily, mental retardation, shypo-deformity of knees and shoulders"	""	"15y"	""	""	""	""	""	""	""	""	""
"0000060338"	"03686"	"00080759"	"01200"	"Unknown"	""	"dysmorphic facies, brachydactily, mental retardation, failure to thrive, shypo-deformity of knees and shoulders"	""	"0,9y"	""	""	""	""	""	""	""	""	""
"0000060339"	"03686"	"00080760"	"01200"	"Unknown"	""	"transient PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, cryptorchidism"	""	"3.5y"	""	""	""	""	""	""	""	""	""
"0000060340"	"03686"	"00080761"	"01200"	"-"	""	"PTH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, DMT1, recurrent otitis media, lack of puberal growth spurt"	""	"14.7y"	""	""	""	""	""	""	""	""	""
"0000060341"	"03686"	"00080762"	"01200"	"-"	""	"PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, hypertension, aortic valve insufficiency"	""	"12.5y"	""	""	""	""	""	""	""	""	""
"0000060342"	"03686"	"00080764"	"01200"	"-"	""	"PTH resistance, short stature, obesity, dysmorphic facies, btachydactily, mental retardation, recurrent otitis media"	""	"07y"	""	""	""	""	""	""	""	""	""
"0000060343"	"03686"	"00080765"	"01200"	"-"	""	"short stature, obesity, dysmorphic facies, brachydactily, mental retardation, recurrent otitis media, unilateral hydronephrosis"	""	"3.5y"	""	""	""	""	""	""	""	""	""
"0000060344"	"03686"	"00080766"	"01200"	"-"	""	"short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age"	""	"14y"	""	""	""	""	""	""	""	""	""
"0000060345"	"03686"	"00080767"	"01200"	"-"	""	"obesity, dysmorphic facies, brachydatily, mental retardation, cone-shaped epiphyses, advanced bone age"	""	"07y"	""	""	""	""	""	""	""	""	""
"0000060346"	"03686"	"00080769"	"01200"	"Familial, autosomal dominant"	""	"borderline PTH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age"	""	"39y&37y"	""	""	""	""	""	""	""	""	""
"0000060347"	"03686"	"00080770"	"01200"	"-"	""	"short stature, dysmorphic facies, brachydactily, mental retardation, advancd bone age"	""	"10.5y"	""	""	""	""	""	""	""	""	""
"0000060348"	"03686"	"00080771"	"01200"	"-"	""	"dysmorphic facies, brachydactily, mental retardation, advanced bone age"	""	"8.5y"	""	""	""	""	""	""	""	""	""
"0000060349"	"03686"	"00080772"	"01200"	"-"	""	"short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age"	""	"17y"	""	""	""	""	""	""	""	""	""
"0000060350"	"03686"	"00080773"	"01200"	"Familial, autosomal dominant"	""	"short stature, dysmorphic facies, brachydactily, mental retardation, advanced bone age"	""	"17y&4.11y"	""	""	""	""	""	""	""	""	""
"0000104163"	"03686"	"00131945"	"01744"	"Unknown"	"35y"	"severe brachydactyly; thick hair; hypertrichosis arms; hip bone replacement–osteoarthrosis; abnormal stature, normal teeth; mil/moderate intellectual disability; dysmorphic face; no clacifications; normal calcium homeastasis; high circulating parathyroid hormone (HP:0003165); vitamin D deficiency (HP:0100512)"	""	"35y"	""	""	""	""	""	""	""	""	""
"0000235206"	"00198"	"00309889"	"01807"	"Unknown"	""	"Brachydactyly (HP:0001156); Depressed nasal bridge (HP:0005280); Limb undergrowth (HP:0009826); Midface retrusion (HP:0011800); Small hand (HP:0200055)"	""	""	""	""	""	""	""	""	""	""	""
"0000239605"	"03686"	"00315859"	"01164"	"Unknown"	""	"neurodevelopmental abnormality, global developmental delay, short stature, facial abnormality; delayed growth; progressive intellectual disability (HP:0006887); dysmorphic face (HP:0001999); decreased body weight (HP:0004325)"	""	""	""	""	""	""	""	""	""	"1"	""
"0000274259"	"05611"	"00380409"	"00006"	"Isolated (sporadic)"	"12y"	"global developmental delays; speech impaired; intellectual disability; motor impaired; dysmorphic features; behavioral deficits; GI/feeding abnormalities; no ophthalmologic abnormalities; hypotonia muscle; no movement/neurological disorder; no seizures; no microcephaly"	"18m"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""


## Screenings ## Do not remove or alter this header ##
## Count = 44
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000064829"	"00064690"	"1"	"00006"	"00002"	"2012-05-03 11:47:58"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064830"	"00064691"	"1"	"00006"	"00002"	"2012-05-03 11:47:58"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064831"	"00064692"	"1"	"01600"	"01600"	"2012-05-24 19:52:14"	"00002"	"2012-07-08 23:29:59"	"SEQ"	"DNA"	""	""
"0000064832"	"00064693"	"1"	"00006"	"00002"	"2012-05-03 11:47:58"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064833"	"00064694"	"1"	"00006"	"00002"	"2012-05-03 11:47:58"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064834"	"00064695"	"1"	"01600"	"01600"	"2012-05-24 19:48:29"	"00002"	"2012-07-08 23:34:06"	"SEQ"	"DNA"	""	""
"0000064835"	"00064696"	"1"	"01600"	"01600"	"2012-05-23 17:10:47"	"00002"	"2012-07-08 23:38:10"	"SEQ"	"DNA"	""	""
"0000064836"	"00064697"	"1"	"01600"	"01600"	"2012-05-24 19:44:53"	"00002"	"2012-07-08 23:31:04"	"SEQ"	"DNA"	""	""
"0000064837"	"00064698"	"1"	"00006"	"00002"	"2012-05-03 11:47:58"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064838"	"00064699"	"1"	"00006"	"00002"	"2012-05-03 11:47:58"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064839"	"00064700"	"1"	"00006"	"00002"	"2012-05-03 11:47:58"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000064840"	"00064701"	"1"	"01600"	"01600"	"2012-05-24 19:39:55"	"00002"	"2012-07-08 23:43:05"	"SEQ"	"DNA"	""	""
"0000080824"	"00080728"	"1"	"01200"	"01200"	"2016-09-09 11:29:00"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080825"	"00080729"	"1"	"01200"	"01200"	"2016-09-09 11:35:58"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080826"	"00080730"	"1"	"01200"	"01200"	"2016-09-09 11:44:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080828"	"00080732"	"1"	"01200"	"01200"	"2016-09-09 13:12:43"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080836"	"00080740"	"1"	"01200"	"01200"	"2016-09-09 16:28:27"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080837"	"00080741"	"1"	"01200"	"01200"	"2016-09-09 16:32:59"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080872"	"00080759"	"1"	"01200"	"01200"	"2016-09-12 09:13:01"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080873"	"00080760"	"1"	"01200"	"01200"	"2016-09-12 09:29:47"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080874"	"00080761"	"1"	"01200"	"01200"	"2016-09-12 09:34:47"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000080875"	"00080762"	"1"	"01200"	"01200"	"2016-09-12 09:46:24"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080876"	"00080764"	"1"	"01200"	"01200"	"2016-09-12 10:00:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080877"	"00080765"	"1"	"01200"	"01200"	"2016-09-12 10:05:28"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080878"	"00080766"	"1"	"01200"	"01200"	"2016-09-12 10:43:42"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080880"	"00080767"	"1"	"01200"	"01200"	"2016-09-12 10:55:37"	""	""	"SEQ"	"DNA"	"blood"	""
"0000080881"	"00080769"	"1"	"01200"	"01200"	"2016-09-12 11:02:22"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080882"	"00080770"	"1"	"01200"	"01200"	"2016-09-12 11:06:22"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080883"	"00080771"	"1"	"01200"	"01200"	"2016-09-12 11:09:41"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080884"	"00080772"	"1"	"01200"	"01200"	"2016-09-12 11:14:20"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080885"	"00080773"	"1"	"01200"	"01200"	"2016-09-12 11:17:55"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000100747"	"00100343"	"1"	"01744"	"01744"	"2017-02-13 11:57:15"	""	""	"SEQ"	"DNA"	"peripheral blood"	""
"0000100778"	"00100374"	"1"	"01907"	"01199"	"2017-02-16 18:38:21"	"01199"	"2017-02-16 18:41:38"	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000100779"	"00100375"	"1"	"01907"	"01199"	"2017-02-16 18:43:23"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000100780"	"00100376"	"1"	"01907"	"01199"	"2017-02-16 18:47:10"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000100781"	"00100377"	"1"	"01907"	"01199"	"2017-02-16 18:50:49"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000100782"	"00100378"	"1"	"01907"	"01199"	"2017-02-16 18:53:34"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000100783"	"00100379"	"1"	"01907"	"01199"	"2017-02-16 19:01:58"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000100784"	"00100380"	"1"	"01907"	"01199"	"2017-02-17 10:07:01"	""	""	"SEQ-NG"	"DNA"	"peripheral blood"	""
"0000132785"	"00131945"	"1"	"01744"	"01199"	"2017-10-04 13:13:09"	""	""	"SEQ"	"DNA"	"peripheral blood"	""
"0000295054"	"00293886"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000311033"	"00309889"	"1"	"01807"	"01807"	"2020-09-04 17:27:01"	""	""	"SEQ"	"DNA"	""	""
"0000317039"	"00315859"	"1"	"01164"	"01164"	"2020-10-29 12:23:52"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000381623"	"00380409"	"1"	"00006"	"00006"	"2021-08-16 13:20:55"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 23
"{{screeningid}}"	"{{geneid}}"
"0000064829"	"PDE4D"
"0000064830"	"PDE4D"
"0000064831"	"PDE4D"
"0000064832"	"PDE4D"
"0000064833"	"PDE4D"
"0000064834"	"PDE4D"
"0000064835"	"PDE4D"
"0000064836"	"PDE4D"
"0000064837"	"PDE4D"
"0000064838"	"PDE4D"
"0000064839"	"PDE4D"
"0000064840"	"PDE4D"
"0000080837"	"A1BG"
"0000100747"	"PDE4D"
"0000100778"	"PDE4D"
"0000100779"	"PDE4D"
"0000100780"	"PDE4D"
"0000100781"	"PDE4D"
"0000100782"	"PDE4D"
"0000100783"	"PDE4D"
"0000100784"	"PDE4D"
"0000132785"	"PDE4D"
"0000317039"	"PDE4D"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 130
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000096465"	"1"	"70"	"5"	"58511682"	"58511682"	"subst"	"0"	"00006"	"PDE4D_000004"	"g.58511682A>C"	""	"{PMID:Michot 2012:22464250}"	"MnlI+; PleI-"	"NM_001104631.1:c.568T>G"	""	"Germline"	""	""	"0"	""	""	"g.59215856A>C"	""	"likely pathogenic"	""
"0000096466"	"1"	"70"	"5"	"58489337"	"58489337"	"subst"	"0"	"00006"	"PDE4D_000001"	"g.58489337G>T"	""	"{PMID:Michot 2012:22464250}"	"MlyI-"	"NM_001104631.1:c.673C>A"	""	"Germline"	""	""	"0"	""	""	"g.59193511G>T"	""	"likely pathogenic"	""
"0000096467"	"1"	"70"	"5"	"58489336"	"58489336"	"subst"	"0"	"01600"	"PDE4D_000013"	"g.58489336G>A"	""	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	""	""	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.59193510G>A"	""	"likely pathogenic"	""
"0000096468"	"1"	"70"	"5"	"58489333"	"58489333"	"subst"	"0"	"00006"	"PDE4D_000003"	"g.58489333A>G"	""	"{PMID:Michot 2012:22464250}"	"BccI+"	"NM_001104631.1:c.677T>C"	""	"Germline"	""	""	"0"	""	""	"g.59193507A>G"	""	"likely pathogenic"	""
"0000096469"	"1"	"70"	"5"	"58489328"	"58489328"	"subst"	"0"	"00006"	"PDE4D_000006"	"g.58489328G>C"	""	"{PMID:Lee 2012:22464252}"	"MnlI+"	"NM_001104631.1:c.682C>G; Gln228Glu"	""	"Germline"	""	""	"0"	""	""	"g.59193502G>C"	""	"likely pathogenic"	""
"0000096470"	"1"	"70"	"5"	"58334705"	"58334705"	"subst"	"0"	"01600"	"PDE4D_000012"	"g.58334705C>G"	""	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	""	""	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.59038878C>G"	""	"likely pathogenic"	""
"0000096471"	"11"	"70"	"5"	"58334696"	"58334696"	"subst"	"0"	"01600"	"PDE4D_000009"	"g.58334696G>A"	""	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.59038869G>A"	""	"likely pathogenic"	""
"0000096472"	"1"	"70"	"5"	"58289228"	"58289228"	"subst"	"0"	"01600"	"PDE4D_000011"	"g.58289228A>G"	""	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	""	""	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.58993401A>G"	""	"likely pathogenic"	""
"0000096473"	"1"	"70"	"5"	"58272248"	"58272248"	"subst"	"0"	"00006"	"PDE4D_000005"	"g.58272248T>G"	""	"{PMID:Michot 2012:22464250}"	"CviKI_1+; BbsI-"	"NM_001104631.1:c.1759A>C"	""	"Germline"	""	""	"0"	""	""	"g.58976421T>G"	""	"likely pathogenic"	""
"0000096474"	"1"	"70"	"5"	"58272238"	"58272238"	"subst"	"0"	"00006"	"PDE4D_000007"	"g.58272238T>G"	""	"{PMID:Lee 2012:22464252}"	"HpyCH4V+"	"NM_001104631.1:c.1769A>C; Glu590Ala"	""	"Germline"	""	""	"0"	""	""	"g.58976411T>G"	""	"likely pathogenic"	""
"0000096475"	"10"	"70"	"5"	"58270903"	"58270903"	"subst"	"0"	"00006"	"PDE4D_000008"	"g.58270903C>T"	""	"{PMID:Lee 2012:22464252}"	"Hpy166II+"	"NM_001104631.1:c.2018G>A; Gly673Asp"	""	"Germline"	""	""	"0"	""	""	"g.58975076C>T"	""	"likely pathogenic"	""
"0000096476"	"1"	"70"	"5"	"58270888"	"58270888"	"subst"	"0"	"01600"	"PDE4D_000010"	"g.58270888A>G"	""	"{PMID:Lynch 2013:23033274}, {DOI:Lynch 2013:10.1002/humu.22222}"	""	""	"de novo, in patient"	"De novo"	""	""	"0"	""	""	"g.58975061A>G"	""	"likely pathogenic"	""
"0000129873"	"0"	"77"	"5"	"58270691"	"58270691"	"subst"	"4.07837E-6"	"01200"	"PDE4D_000014"	"g.58270691C>A"	""	"{PMID:Elli et al.2016:26763073}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.58974864C>A"	""	"likely pathogenic"	""
"0000129874"	"0"	"77"	"5"	"58284410"	"58284410"	"subst"	"0"	"01200"	"PDE4D_000015"	"g.58284410T>G"	""	"{PMID:Elli et al.2016:26763073}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58988583T>G"	""	"likely pathogenic"	""
"0000129876"	"0"	"77"	"5"	"58272224"	"58272224"	"subst"	"0"	"01200"	"PDE4D_000016"	"g.58272224T>G"	""	"{PMID:Elli et al.2016:26763073}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58976397T>G"	""	"likely pathogenic"	""
"0000129879"	"0"	"77"	"5"	"58271648"	"58271648"	"subst"	"0"	"01200"	"PDE4D_000017"	"g.58271648G>A"	""	"{PMID:Elli et al.2016:26763073}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.58975821G>A"	""	"likely pathogenic"	""
"0000129893"	"0"	"77"	"5"	"58489339"	"58489339"	"subst"	"0"	"01200"	"PDE4D_000018"	"g.58489339G>A"	""	"{PMID:Mitsui et al.2014:25044890}"	""	""	""	"Not applicable"	"-"	""	"0"	""	""	"g.59193513G>A"	""	"likely pathogenic"	""
"0000129895"	"0"	"77"	"5"	"58489339"	"58489339"	"subst"	"0"	"01200"	"PDE4D_000018"	"g.58489339G>A"	""	"{PMID:Mitsui et al. 2014:25044890}"	""	"T224I"	""	"Not applicable"	""	""	"0"	""	""	"g.59193513G>A"	""	"likely pathogenic"	""
"0000129930"	"0"	"77"	"5"	"58289216"	"58289216"	"subst"	"0"	"01200"	"PDE4D_000019"	"g.58289216A>G"	""	"{PMID:Mitsui et al.2014:25044890}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58993389A>G"	""	"likely pathogenic"	""
"0000129931"	"0"	"77"	"5"	"58489334"	"58489334"	"subst"	"0"	"01200"	"PDE4D_000020"	"g.58489334A>C"	""	"{PMID:Lindstrand et al.2014:24203977}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.59193508A>C"	""	"likely pathogenic"	""
"0000129932"	"0"	"77"	"5"	"58489333"	"58489333"	"subst"	"0"	"01200"	"PDE4D_000021"	"g.58489333A>C"	""	"{PMID:Lindstrand et al.2014:24203977}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.59193507A>C"	""	"likely pathogenic"	""
"0000129933"	"0"	"77"	"5"	"58334700"	"58334700"	"subst"	"0"	"01200"	"PDE4D_000022"	"g.58334700T>C"	""	"{PMID:continuato dalle 9 alle 14}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.59038873T>C"	""	"likely pathogenic"	""
"0000129934"	"0"	"77"	"5"	"58289228"	"58289228"	"subst"	"0"	"01200"	"PDE4D_000011"	"g.58289228A>G"	""	"{PMID:Lindstrand et al.2014:24203977}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58993401A>G"	""	"likely pathogenic"	""
"0000129935"	"0"	"77"	"5"	"58270888"	"58270888"	"subst"	"0"	"01200"	"PDE4D_000010"	"g.58270888A>G"	""	"{PMID:Lindstrand et al.2014:24203977}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58975061A>G"	""	"likely pathogenic"	""
"0000129936"	"0"	"77"	"5"	"58489331"	"58489331"	"subst"	"0"	"01200"	"PDE4D_000023"	"g.58489331C>A"	""	"{PMID:Linglart et al.2012:23043190}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.59193505C>A"	""	"likely pathogenic"	""
"0000129937"	"0"	"77"	"5"	"58272238"	"58272238"	"subst"	"0"	"01200"	"PDE4D_000007"	"g.58272238T>G"	""	"{PMID:Linglart et al.2012:24203977}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58976411T>G"	""	"likely pathogenic"	""
"0000129939"	"0"	"77"	"5"	"58489327"	"58489327"	"subst"	"0"	"01200"	"PDE4D_000024"	"g.58489327T>G"	""	"{PMID:Kaname et al.2014:25064455}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.59193501T>G"	""	"likely pathogenic"	""
"0000129940"	"0"	"77"	"5"	"58481084"	"58481084"	"subst"	"0"	"01200"	"PDE4D_000025"	"g.58481084A>G"	""	"{PMID:Kaname et al.2014:25064455}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.59185258A>G"	""	"likely pathogenic"	""
"0000129941"	"0"	"77"	"5"	"58272248"	"58272248"	"subst"	"0"	"01200"	"PDE4D_000026"	"g.58272248T>C"	""	"{PMID:Kaname et al.2014:25064455}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58976421T>C"	""	"likely pathogenic"	""
"0000129942"	"0"	"77"	"5"	"58270903"	"58270903"	"subst"	"0"	"01200"	"PDE4D_000008"	"g.58270903C>T"	""	"{PMID:Kaname et al.2014:25064455}"	""	""	""	"Not applicable"	"?"	""	"0"	""	""	"g.58975076C>T"	""	"likely pathogenic"	""
"0000129943"	"0"	"77"	"5"	"58270888"	"58270888"	"subst"	"0"	"01200"	"PDE4D_000010"	"g.58270888A>G"	""	"{PMID:Kaname et al.2014:25064455}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.58975061A>G"	""	"likely pathogenic"	""
"0000163113"	"0"	"70"	"5"	"58289280"	"58289280"	"subst"	"0"	"01744"	"PDE4D_000032"	"g.58289280G>C"	""	"NOT PUBLISHED"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58993453G>C"	""	"likely pathogenic"	""
"0000163152"	"1"	"90"	"5"	"58273020"	"58273020"	"subst"	"0"	"01907"	"PDE4D_000027"	"g.58273020T>A"	""	"NOT PUBLISHED"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.58977193T>A"	""	"pathogenic"	""
"0000163153"	"1"	"70"	"5"	"58270669"	"58270669"	"subst"	"0"	"01907"	"PDE4D_000028"	"g.58270669T>C"	""	"NOT PUBLISHED"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.58974842T>C"	""	"likely pathogenic"	""
"0000163154"	"21"	"90"	"5"	"58511681"	"58511681"	"subst"	"0"	"01907"	"PDE4D_000029"	"g.58511681G>A"	""	"NOT PUBLISHED"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.59215855G>A"	""	"pathogenic"	""
"0000163155"	"1"	"70"	"5"	"58334705"	"58334705"	"subst"	"0"	"01907"	"PDE4D_000030"	"g.58334705C>T"	""	"NOT PUBLISHED"	""	""	""	"De novo"	""	""	"0"	""	""	"g.59038878C>T"	""	"likely pathogenic"	""
"0000163156"	"1"	"70"	"5"	"58489337"	"58489337"	"subst"	"0"	"01907"	"PDE4D_000031"	"g.58489337G>A"	""	"NOT PUBLISHED"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.59193511G>A"	""	"likely pathogenic"	""
"0000163157"	"1"	"90"	"5"	"58511681"	"58511681"	"subst"	"0"	"01907"	"PDE4D_000029"	"g.58511681G>A"	""	"NOT PUBLISHED"	""	""	""	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	"g.59215855G>A"	""	"pathogenic"	""
"0000163158"	"21"	"90"	"5"	"58273020"	"58273020"	"subst"	"0"	"01907"	"PDE4D_000027"	"g.58273020T>A"	""	"NOT PUBLISHED"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.58977193T>A"	""	"pathogenic"	""
"0000221969"	"1"	"99"	"5"	"58334705"	"58334705"	"subst"	"0"	"01744"	"PDE4D_000030"	"g.58334705C>T"	""	"NOT PUBLISHED"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.59038878C>T"	""	"pathogenic"	""
"0000253792"	"0"	"10"	"5"	"58286750"	"58286750"	"del"	"0"	"01943"	"PDE4D_000036"	"g.58286750del"	""	""	""	"PDE4D(NM_001197220.1):c.799-9delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58990923del"	""	"benign"	""
"0000293594"	"0"	"30"	"5"	"59189226"	"59189228"	"del"	"0"	"02330"	"PDE4D_000042"	"g.59189226_59189228del"	""	""	""	"PDE4D(NM_001104631.2):c.234_236delGCC (p.P80del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.59893399_59893401del"	""	"likely benign"	""
"0000296849"	"0"	"10"	"5"	"58286625"	"58286625"	"subst"	"0.837577"	"02325"	"PDE4D_000034"	"g.58286625C>T"	""	""	""	"PDE4D(NM_001197220.2):c.897+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58990798C>T"	""	"benign"	""
"0000305326"	"0"	"30"	"5"	"58334822"	"58334822"	"subst"	"2.51712E-5"	"01943"	"PDE4D_000038"	"g.58334822G>A"	""	""	""	"PDE4D(NM_001197222.1):c.113C>T (p.S38F, p.(Ser38Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.59038995G>A"	""	"likely benign"	""
"0000305327"	"0"	"30"	"5"	"58652640"	"58652640"	"subst"	"0.000170332"	"01943"	"PDE4D_000039"	"g.58652640C>T"	""	""	""	"PDE4D(NM_001197219.1):c.33G>A (p.T11=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.59356814C>T"	""	"likely benign"	""
"0000305328"	"0"	"30"	"5"	"59189057"	"59189057"	"subst"	"1.30712E-5"	"01943"	"PDE4D_000040"	"g.59189057G>A"	""	""	""	"PDE4D(NM_001104631.2):c.393C>T (p.G131=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.59893230G>A"	""	"likely benign"	""
"0000305329"	"0"	"50"	"5"	"58289231"	"58289231"	"subst"	"0"	"01943"	"PDE4D_000037"	"g.58289231T>G"	""	""	""	"PDE4D(NM_001197220.1):c.593A>C (p.Q198P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58993404T>G"	""	"VUS"	""
"0000330374"	"0"	"50"	"5"	"59189114"	"59189114"	"subst"	"0"	"01804"	"PDE4D_000041"	"g.59189114G>A"	""	""	""	"PDE4D(NM_001104631.1):c.336C>T (p.(=)), PDE4D(NM_001104631.2):c.336C>T (p.T112=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.59893287G>A"	""	"VUS"	""
"0000343752"	"0"	"50"	"5"	"58286712"	"58286712"	"subst"	"0"	"02327"	"PDE4D_000043"	"g.58286712G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58990885G>C"	""	"VUS"	""
"0000525855"	"0"	"30"	"5"	"58270619"	"58270619"	"subst"	"8.13603E-6"	"01804"	"PDE4D_000044"	"g.58270619G>C"	""	""	""	"PDE4D(NM_001104631.1):c.2302C>G (p.(Leu768Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58974792G>C"	""	"likely benign"	""
"0000525856"	"0"	"50"	"5"	"58270676"	"58270676"	"subst"	"0"	"02327"	"PDE4D_000045"	"g.58270676C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58974849C>A"	""	"VUS"	""
"0000525857"	"0"	"10"	"5"	"58273033"	"58273033"	"subst"	"0.00135248"	"01943"	"PDE4D_000046"	"g.58273033T>C"	""	""	""	"PDE4D(NM_001197220.1):c.1302A>G (p.K434=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58977206T>C"	""	"benign"	""
"0000525858"	"0"	"30"	"5"	"58285574"	"58285574"	"subst"	"0.00763878"	"01804"	"PDE4D_000047"	"g.58285574A>G"	""	""	""	"PDE4D(NM_001104631.1):c.1452+8T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58989747A>G"	""	"likely benign"	""
"0000525860"	"0"	"30"	"5"	"58286750"	"58286750"	"dup"	"0"	"01943"	"PDE4D_000049"	"g.58286750dup"	""	""	""	"PDE4D(NM_001197220.1):c.799-9dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58990923dup"	""	"likely benign"	""
"0000525862"	"0"	"30"	"5"	"58334922"	"58334922"	"subst"	"0.00965875"	"01804"	"PDE4D_000051"	"g.58334922G>T"	""	""	""	"PDE4D(NM_001197221.1):c.-136C>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.59039095G>T"	""	"likely benign"	""
"0000525863"	"0"	"90"	"5"	"58481084"	"58481084"	"subst"	"0"	"02327"	"PDE4D_000025"	"g.58481084A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.59185258A>G"	""	"pathogenic"	""
"0000609758"	"0"	"50"	"5"	"58652603"	"58652603"	"subst"	"0"	"01943"	"PDE4D_000054"	"g.58652603G>A"	""	""	""	"PDE4D(NM_001197219.1):c.70C>T (p.R24C, p.(Arg24Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.59356777G>A"	""	"VUS"	""
"0000621580"	"0"	"50"	"5"	"58286668"	"58286668"	"subst"	"0"	"01943"	"PDE4D_000053"	"g.58286668T>C"	""	""	""	"PDE4D(NM_001364604.1):c.482A>G (p.N161S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58990841T>C"	""	"VUS"	""
"0000621581"	"0"	"30"	"5"	"59189048"	"59189048"	"subst"	"0"	"01943"	"PDE4D_000055"	"g.59189048G>A"	""	""	""	"PDE4D(NM_001104631.2):c.402C>T (p.P134=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.59893221G>A"	""	"likely benign"	""
"0000651743"	"1"	"30"	"5"	"58334922"	"58334922"	"subst"	"0.00965875"	"03575"	"PDE4D_000051"	"g.58334922G>T"	"9/2787 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"9 heterozygous, no homozygous; {DB:CLININrs16889108}"	"Germline"	""	"rs16889108"	"0"	""	""	"g.59039095G>T"	""	"likely benign"	""
"0000655396"	"0"	"30"	"5"	"59481416"	"59481416"	"subst"	"0"	"01943"	"PDE4D_000056"	"g.59481416T>C"	""	""	""	"PDE4D(NM_001165899.1):c.10A>G (p.N4D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.60185589T>C"	""	"likely benign"	""
"0000677528"	"0"	"30"	"5"	"59189027"	"59189027"	"subst"	"0"	"01804"	"PDE4D_000057"	"g.59189027C>T"	""	""	""	"PDE4D(NM_001104631.1):c.423G>A (p.(Met141Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000686209"	"0"	"70"	"5"	"58511675"	"58511675"	"subst"	"0"	"01807"	"PDE4D_000058"	"g.58511675A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000699222"	"0"	"50"	"5"	"58511682"	"58511682"	"subst"	"0"	"01164"	"PDE4D_000059"	"g.58511682A>G"	""	""	""	""	"ACMG codes: PM2, PM5_sup (p.Ser129Ala deemed path); PP2 (gnomAD missense z-score >3), PP3 (MetaSVM score): class 3"	"Germline"	"?"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0000720465"	"0"	"50"	"5"	"58289201"	"58289206"	"del"	"0"	"02327"	"PDE4D_000060"	"g.58289201_58289206del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720466"	"0"	"50"	"5"	"58334820"	"58334820"	"subst"	"0"	"01943"	"PDE4D_000061"	"g.58334820G>A"	""	""	""	"PDE4D(NM_001197222.1):c.115C>T (p.P39S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720467"	"0"	"50"	"5"	"58453156"	"58453156"	"subst"	"0"	"01943"	"PDE4D_000062"	"g.58453156A>G"	""	""	""	"PDE4D(NM_001364602.1):c.650T>C (p.L217P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000795113"	"0"	"70"	"5"	"58481064"	"58481064"	"subst"	"0"	"00006"	"PDE4D_000063"	"g.58481064G>A"	""	"{PMID:Goodman 2021:34314705}, {DOI:Goodman 2021:10.1016/j.ajhg.2021.06.019}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0000802143"	"0"	"30"	"5"	"58270788"	"58270788"	"subst"	"0.000549366"	"01943"	"PDE4D_000064"	"g.58270788T>G"	""	""	""	"PDE4D(NM_001364604.1):c.1365A>C (p.T455=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802144"	"0"	"50"	"5"	"58272209"	"58272211"	"del"	"0"	"01804"	"PDE4D_000065"	"g.58272209_58272211del"	""	""	""	"PDE4D(NM_001104631.1):c.1804_1806del (p.(Leu602del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802145"	"0"	"30"	"5"	"58285681"	"58285681"	"subst"	"0.000423777"	"01943"	"PDE4D_000066"	"g.58285681G>A"	""	""	""	"PDE4D(NM_001364604.1):c.585C>T (p.L195=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802146"	"0"	"30"	"5"	"58334716"	"58334716"	"subst"	"0.000415078"	"01943"	"PDE4D_000067"	"g.58334716C>T"	""	""	""	"PDE4D(NM_001364604.1):c.123G>A (p.R41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802147"	"0"	"50"	"5"	"58334822"	"58334822"	"subst"	"2.51712E-5"	"01804"	"PDE4D_000038"	"g.58334822G>A"	""	""	""	"PDE4D(NM_001197222.1):c.113C>T (p.S38F, p.(Ser38Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802148"	"0"	"50"	"5"	"58726190"	"58726190"	"subst"	"0"	"01943"	"PDE4D_000068"	"g.58726190G>A"	""	""	""	"PDE4D(NM_001349242.1):c.55C>T (p.R19*), PDE4D(NM_001349242.2):c.55C>T (p.(Arg19*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802149"	"0"	"30"	"5"	"59064226"	"59064226"	"subst"	"0"	"01804"	"PDE4D_000069"	"g.59064226A>G"	""	""	""	"PDE4D(NM_001197218.1):c.110T>C (p.(Leu37Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000839988"	"0"	"50"	"5"	"58284413"	"58284413"	"subst"	"0"	"03779"	"PDE4D_000070"	"g.58284413A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"VUS"	""
"0000850931"	"0"	"30"	"5"	"58270686"	"58270686"	"subst"	"3.66925E-5"	"02325"	"PDE4D_000071"	"g.58270686C>A"	""	""	""	"PDE4D(NM_001104631.2):c.2235G>T (p.E745D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850932"	"0"	"50"	"5"	"58271567"	"58271567"	"subst"	"0.000114109"	"02325"	"PDE4D_000072"	"g.58271567G>A"	""	""	""	"PDE4D(NM_001104631.2):c.1930C>T (p.(Arg644Cys), p.R644C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850933"	"0"	"10"	"5"	"58285761"	"58285761"	"dup"	"0"	"02325"	"PDE4D_000073"	"g.58285761dup"	""	""	""	"PDE4D(NM_001104631.1):c.1288-8dupT (p.?), PDE4D(NM_001197220.2):c.898-8dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000850934"	"0"	"10"	"5"	"58286749"	"58286750"	"del"	"0"	"02325"	"PDE4D_000075"	"g.58286749_58286750del"	""	""	""	"PDE4D(NM_001197220.2):c.799-10_799-9delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000850935"	"0"	"30"	"5"	"59189138"	"59189138"	"subst"	"0.000316308"	"01943"	"PDE4D_000078"	"g.59189138G>C"	""	""	""	"PDE4D(NM_001104631.2):c.312C>G (p.V104=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859976"	"0"	"50"	"5"	"58286719"	"58286719"	"subst"	"0"	"01804"	"PDE4D_000074"	"g.58286719T>A"	""	""	""	"PDE4D(NM_001104631.1):c.1199A>T (p.(Asp400Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859977"	"0"	"50"	"5"	"58511603"	"58511603"	"subst"	"0"	"01804"	"PDE4D_000076"	"g.58511603A>G"	""	""	""	"PDE4D(NM_001104631.1):c.647T>C (p.(Ile216Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859978"	"0"	"50"	"5"	"58726120"	"58726120"	"subst"	"0"	"01943"	"PDE4D_000077"	"g.58726120C>T"	""	""	""	"PDE4D(NM_001349242.1):c.125G>A (p.R42H), PDE4D(NM_001349242.2):c.125G>A (p.R42H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886894"	"0"	"50"	"5"	"58273020"	"58273020"	"subst"	"0"	"02325"	"PDE4D_000079"	"g.58273020T>G"	""	""	""	"PDE4D(NM_001104631.2):c.1705A>C (p.I569L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000924363"	"0"	"30"	"5"	"59189215"	"59189215"	"subst"	"0"	"01804"	"PDE4D_000080"	"g.59189215G>A"	""	""	""	"PDE4D(NM_001104631.1):c.235C>T (p.(Pro79Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963642"	"0"	"30"	"5"	"58286721"	"58286721"	"subst"	"0"	"02330"	"PDE4D_000081"	"g.58286721T>C"	""	""	""	"PDE4D(NM_001364604.1):c.429A>G (p.E143=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963643"	"0"	"30"	"5"	"58295390"	"58295395"	"dup"	"0"	"02330"	"PDE4D_000082"	"g.58295390_58295395dup"	""	""	""	"PDE4D(NM_001197223.2):c.-23_-18dupTATATA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963644"	"0"	"10"	"5"	"58295394"	"58295395"	"dup"	"0"	"02330"	"PDE4D_000083"	"g.58295394_58295395dup"	""	""	""	"PDE4D(NM_001197223.2):c.-19_-18dupTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000963645"	"0"	"30"	"5"	"58453162"	"58453162"	"subst"	"0"	"02330"	"PDE4D_000084"	"g.58453162G>A"	""	""	""	"PDE4D(NM_001364600.2):c.653C>T (p.(Thr218Met)), PDE4D(NM_001364602.2):c.644C>T (p.T215M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963646"	"0"	"30"	"5"	"58652602"	"58652602"	"subst"	"0.000420715"	"02330"	"PDE4D_000085"	"g.58652602C>T"	""	""	""	"PDE4D(NM_001197219.2):c.71G>A (p.R24H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963647"	"0"	"30"	"5"	"58726120"	"58726120"	"subst"	"0"	"02330"	"PDE4D_000077"	"g.58726120C>T"	""	""	""	"PDE4D(NM_001349242.1):c.125G>A (p.R42H), PDE4D(NM_001349242.2):c.125G>A (p.R42H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963648"	"0"	"30"	"5"	"58726258"	"58726258"	"subst"	"0"	"02330"	"PDE4D_000086"	"g.58726258C>T"	""	""	""	"PDE4D(NM_001349242.2):c.-14G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963649"	"0"	"30"	"5"	"58882166"	"58882166"	"subst"	"0"	"02330"	"PDE4D_000087"	"g.58882166A>G"	""	""	""	"PDE4D(NM_006203.5):c.36T>C (p.H12=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963650"	"0"	"10"	"5"	"58882213"	"58882219"	"del"	"0"	"02330"	"PDE4D_000088"	"g.58882213_58882219del"	""	""	""	"PDE4D(NM_001364604.1):c.-302_-296delCAGAAGA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000963651"	"0"	"30"	"5"	"59064061"	"59064061"	"subst"	"4.43019E-5"	"02330"	"PDE4D_000089"	"g.59064061C>A"	""	""	""	"PDE4D(NM_001364603.1):c.-496+12G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963652"	"0"	"30"	"5"	"59189057"	"59189057"	"subst"	"1.30712E-5"	"02330"	"PDE4D_000040"	"g.59189057G>A"	""	""	""	"PDE4D(NM_001104631.2):c.393C>T (p.G131=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963653"	"0"	"30"	"5"	"59189060"	"59189060"	"subst"	"0"	"02330"	"PDE4D_000090"	"g.59189060G>A"	""	""	""	"PDE4D(NM_001104631.2):c.390C>T (p.T130=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963654"	"0"	"30"	"5"	"59189114"	"59189114"	"subst"	"0"	"02330"	"PDE4D_000041"	"g.59189114G>A"	""	""	""	"PDE4D(NM_001104631.1):c.336C>T (p.(=)), PDE4D(NM_001104631.2):c.336C>T (p.T112=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976815"	"0"	"30"	"5"	"58270525"	"58270525"	"subst"	"0.000416378"	"02330"	"PDE4D_000091"	"g.58270525G>C"	""	""	""	"PDE4D(NM_001364604.1):c.1628C>G (p.A543G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976816"	"0"	"30"	"5"	"58285761"	"58285761"	"dup"	"0"	"01804"	"PDE4D_000073"	"g.58285761dup"	""	""	""	"PDE4D(NM_001104631.1):c.1288-8dupT (p.?), PDE4D(NM_001197220.2):c.898-8dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976817"	"0"	"50"	"5"	"58289208"	"58289208"	"subst"	"0"	"02327"	"PDE4D_000092"	"g.58289208T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976818"	"0"	"30"	"5"	"58334716"	"58334716"	"subst"	"0.000415078"	"02330"	"PDE4D_000067"	"g.58334716C>T"	""	""	""	"PDE4D(NM_001364604.1):c.123G>A (p.R41=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976819"	"0"	"50"	"5"	"58726183"	"58726183"	"subst"	"0"	"01804"	"PDE4D_000093"	"g.58726183G>A"	""	""	""	"PDE4D(NM_001349242.2):c.62C>T (p.(Ala21Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000976820"	"0"	"30"	"5"	"58750900"	"58750900"	"subst"	"0"	"01804"	"PDE4D_000094"	"g.58750900T>C"	""	""	""	"PDE4D(NM_001104631.2):c.456-239106A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976821"	"0"	"30"	"5"	"59189298"	"59189298"	"subst"	"0"	"01804"	"PDE4D_000095"	"g.59189298A>G"	""	""	""	"PDE4D(NM_001104631.2):c.152T>C (p.(Leu51Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976822"	"0"	"50"	"5"	"59284544"	"59284544"	"subst"	"4.33118E-6"	"01804"	"PDE4D_000096"	"g.59284544C>T"	""	""	""	"PDE4D(NM_001165899.2):c.43G>A (p.(Ala15Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000995104"	"0"	"30"	"5"	"58270667"	"58270667"	"subst"	"2.03533E-5"	"01804"	"PDE4D_000097"	"g.58270667T>C"	""	""	""	"PDE4D(NM_001104631.1):c.2254A>G (p.(Ser752Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995105"	"0"	"50"	"5"	"58270742"	"58270742"	"subst"	"1.62881E-5"	"01804"	"PDE4D_000098"	"g.58270742G>A"	""	""	""	"PDE4D(NM_001104631.1):c.2179C>T (p.(Arg727Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000995106"	"0"	"50"	"5"	"58284410"	"58284410"	"subst"	"0"	"01804"	"PDE4D_000099"	"g.58284410T>C"	""	""	""	"PDE4D(NM_001104631.1):c.1462A>G (p.(Thr488Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000995107"	"0"	"30"	"5"	"58652603"	"58652603"	"subst"	"0"	"01804"	"PDE4D_000054"	"g.58652603G>A"	""	""	""	"PDE4D(NM_001197219.1):c.70C>T (p.R24C, p.(Arg24Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995108"	"0"	"30"	"5"	"58726185"	"58726185"	"subst"	"0"	"02330"	"PDE4D_000100"	"g.58726185G>C"	""	""	""	"PDE4D(NM_001349242.2):c.60C>G (p.S20R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995109"	"0"	"30"	"5"	"58882192"	"58882192"	"subst"	"1.22304E-5"	"01804"	"PDE4D_000101"	"g.58882192C>T"	""	""	""	"PDE4D(NM_006203.4):c.10G>A (p.(Val4Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995110"	"0"	"30"	"5"	"59064208"	"59064208"	"subst"	"0"	"01804"	"PDE4D_000102"	"g.59064208G>A"	""	""	""	"PDE4D(NM_001197218.1):c.128C>T (p.(Ser43Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995111"	"0"	"50"	"5"	"59189166"	"59189166"	"subst"	"0"	"01804"	"PDE4D_000103"	"g.59189166T>A"	""	""	""	"PDE4D(NM_001104631.1):c.284A>T (p.(Tyr95Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000995112"	"0"	"30"	"5"	"59284433"	"59284433"	"subst"	"4.2649E-6"	"01804"	"PDE4D_000104"	"g.59284433C>T"	""	""	""	"PDE4D(NM_001165899.1):c.154G>A (p.(Ala52Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014140"	"0"	"30"	"5"	"58286746"	"58286746"	"subst"	"0"	"02330"	"PDE4D_000105"	"g.58286746A>G"	""	""	""	"PDE4D(NM_001364604.1):c.421-17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014141"	"0"	"30"	"5"	"58295392"	"58295395"	"dup"	"0"	"02330"	"PDE4D_000106"	"g.58295392_58295395dup"	""	""	""	"PDE4D(NM_001197223.2):c.-23_-20dupTATA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014142"	"0"	"30"	"5"	"58334914"	"58334914"	"subst"	"0"	"02330"	"PDE4D_000107"	"g.58334914A>G"	""	""	""	"PDE4D(NM_001197222.2):c.21T>C (p.C7=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035248"	"0"	"30"	"5"	"58271567"	"58271567"	"subst"	"0.000114109"	"01804"	"PDE4D_000072"	"g.58271567G>A"	""	""	""	"PDE4D(NM_001104631.2):c.1930C>T (p.(Arg644Cys), p.R644C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035249"	"0"	"50"	"5"	"58271583"	"58271583"	"subst"	"4.07511E-6"	"01804"	"PDE4D_000108"	"g.58271583T>C"	""	""	""	"PDE4D(NM_001104631.2):c.1914A>G (p.(Ile638Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035250"	"0"	"50"	"5"	"58284377"	"58284377"	"subst"	"0"	"01804"	"PDE4D_000109"	"g.58284377T>C"	""	""	""	"PDE4D(NM_001104631.2):c.1495A>G (p.(Ser499Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035251"	"0"	"30"	"5"	"58287680"	"58287680"	"subst"	"1.53036E-5"	"01804"	"PDE4D_000110"	"g.58287680T>A"	""	""	""	"PDE4D(NM_001104631.2):c.1167A>T (p.(Glu389Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035252"	"0"	"30"	"5"	"58289443"	"58289443"	"subst"	"0"	"01804"	"PDE4D_000111"	"g.58289443A>G"	""	""	""	"PDE4D(NM_001104631.2):c.922-151T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035253"	"0"	"30"	"5"	"58453162"	"58453162"	"subst"	"0"	"01804"	"PDE4D_000084"	"g.58453162G>A"	""	""	""	"PDE4D(NM_001364600.2):c.653C>T (p.(Thr218Met)), PDE4D(NM_001364602.2):c.644C>T (p.T215M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035254"	"0"	"30"	"5"	"58513515"	"58513515"	"subst"	"0"	"01804"	"PDE4D_000112"	"g.58513515C>T"	""	""	""	"PDE4D(NM_001104631.2):c.456-1721G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035255"	"0"	"30"	"5"	"58652753"	"58652753"	"subst"	"0"	"01804"	"PDE4D_000113"	"g.58652753C>T"	""	""	""	"PDE4D(NM_001197219.2):c.-81G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035256"	"0"	"30"	"5"	"58726190"	"58726190"	"subst"	"0"	"01804"	"PDE4D_000068"	"g.58726190G>A"	""	""	""	"PDE4D(NM_001349242.1):c.55C>T (p.R19*), PDE4D(NM_001349242.2):c.55C>T (p.(Arg19*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035257"	"0"	"30"	"5"	"59064316"	"59064316"	"subst"	"8.83291E-6"	"01804"	"PDE4D_000114"	"g.59064316G>A"	""	""	""	"PDE4D(NM_001197218.2):c.20C>T (p.(Pro7Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035258"	"0"	"50"	"5"	"59284457"	"59284457"	"subst"	"8.52784E-6"	"02325"	"PDE4D_000115"	"g.59284457G>A"	""	""	""	"PDE4D(NM_001349241.2):c.100C>T (p.R34C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes PDE4D
## Count = 217
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000096465"	"00024128"	"70"	"385"	"0"	"385"	"0"	"c.385T>G"	"r.(?)"	"p.(Ser129Ala)"	"4"
"0000096466"	"00024128"	"70"	"490"	"0"	"490"	"0"	"c.490C>A"	"r.(?)"	"p.(Pro164Thr)"	"5"
"0000096467"	"00024128"	"70"	"491"	"0"	"491"	"0"	"c.491C>T"	"r.(?)"	"p.(Pro164Leu)"	"5"
"0000096468"	"00024128"	"70"	"494"	"0"	"494"	"0"	"c.494T>C"	"r.(?)"	"p.(Phe165Ser)"	"5"
"0000096469"	"00024128"	"70"	"499"	"0"	"499"	"0"	"c.499C>G"	"r.(?)"	"p.(Gln167Glu)"	"5"
"0000096470"	"00024128"	"70"	"719"	"0"	"719"	"0"	"c.719G>C"	"r.(?)"	"p.(Ser240Thr)"	"8"
"0000096471"	"00024128"	"70"	"728"	"0"	"728"	"0"	"c.728C>T"	"r.(?)"	"p.(Ala243Val)"	"8"
"0000096472"	"00024128"	"70"	"803"	"0"	"803"	"0"	"c.803T>C"	"r.(?)"	"p.(Val268Ala)"	"9"
"0000096473"	"00024128"	"70"	"1576"	"0"	"1576"	"0"	"c.1576A>C"	"r.(?)"	"p.(Thr526Pro)"	"15"
"0000096474"	"00024128"	"70"	"1586"	"0"	"1586"	"0"	"c.1586A>C"	"r.(?)"	"p.(Glu529Ala)"	"15"
"0000096475"	"00024128"	"70"	"1835"	"0"	"1835"	"0"	"c.1835G>A"	"r.(?)"	"p.(Gly612Asp)"	"17"
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"0000129934"	"00024128"	"77"	"803"	"0"	"803"	"0"	"c.803T>C"	"r.(?)"	"p.(Val268Ala)"	"9"
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"0000129936"	"00024128"	"77"	"496"	"0"	"496"	"0"	"c.496G>T"	"r.(?)"	"p.(Ala166Ser)"	"5"
"0000129937"	"00024128"	"77"	"1586"	"0"	"1586"	"0"	"c.1586A>C"	"r.(?)"	"p.(Glu529Ala)"	"15"
"0000129939"	"00024128"	"77"	"500"	"0"	"500"	"0"	"c.500A>C"	"r.(?)"	"p.(Gln167Pro)"	"5"
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"0000129942"	"00024128"	"77"	"1835"	"0"	"1835"	"0"	"c.1835G>A"	"r.(?)"	"p.(Gly612Asp)"	"17"
"0000129943"	"00024128"	"77"	"1850"	"0"	"1850"	"0"	"c.1850T>C"	"r.(?)"	"p.(Ile617Thr)"	"17"
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"0000163154"	"00024128"	"90"	"386"	"0"	"386"	"0"	"c.386C>T"	"r.(?)"	"p.(Ser129Phe)"	"4"
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"0000163157"	"00024128"	"90"	"386"	"0"	"386"	"0"	"c.386C>T"	"r.(?)"	"p.(Ser129Phe)"	"4"
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"0000296849"	"00024128"	"10"	"1104"	"6"	"1104"	"6"	"c.1104+6G>A"	"r.(=)"	"p.(=)"	""
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"0000305326"	"00024128"	"30"	"626"	"-24"	"626"	"-24"	"c.626-24C>T"	"r.(=)"	"p.(=)"	""
"0000305327"	"00025633"	"30"	"456"	"-140846"	"456"	"-140846"	"c.456-140846G>A"	"r.(=)"	"p.(=)"	""
"0000305327"	"00024128"	"30"	"273"	"-140846"	"273"	"-140846"	"c.273-140846G>A"	"r.(=)"	"p.(=)"	""
"0000305328"	"00025633"	"30"	"393"	"0"	"393"	"0"	"c.393C>T"	"r.(?)"	"p.(Gly131=)"	""
"0000305328"	"00024128"	"30"	"272"	"95258"	"272"	"95258"	"c.272+95258C>T"	"r.(=)"	"p.(=)"	""
"0000305329"	"00025633"	"50"	"983"	"0"	"983"	"0"	"c.983A>C"	"r.(?)"	"p.(Gln328Pro)"	""
"0000305329"	"00024128"	"50"	"800"	"0"	"800"	"0"	"c.800A>C"	"r.(?)"	"p.(Gln267Pro)"	""
"0000330374"	"00025633"	"50"	"336"	"0"	"336"	"0"	"c.336C>T"	"r.(?)"	"p.(Thr112=)"	""
"0000330374"	"00024128"	"50"	"272"	"95201"	"272"	"95201"	"c.272+95201C>T"	"r.(=)"	"p.(=)"	""
"0000343752"	"00025633"	"50"	"1206"	"0"	"1206"	"0"	"c.1206C>G"	"r.(?)"	"p.(Asn402Lys)"	""
"0000343752"	"00024128"	"50"	"1023"	"0"	"1023"	"0"	"c.1023C>G"	"r.(?)"	"p.(Asn341Lys)"	""
"0000525855"	"00025633"	"30"	"2302"	"0"	"2302"	"0"	"c.2302C>G"	"r.(?)"	"p.(Leu768Val)"	""
"0000525855"	"00024128"	"30"	"2119"	"0"	"2119"	"0"	"c.2119C>G"	"r.(?)"	"p.(Leu707Val)"	""
"0000525856"	"00025633"	"50"	"2245"	"0"	"2245"	"0"	"c.2245G>T"	"r.(?)"	"p.(Glu749Ter)"	""
"0000525856"	"00024128"	"50"	"2062"	"0"	"2062"	"0"	"c.2062G>T"	"r.(?)"	"p.(Glu688Ter)"	""
"0000525857"	"00025633"	"10"	"1692"	"0"	"1692"	"0"	"c.1692A>G"	"r.(?)"	"p.(Lys564=)"	""
"0000525857"	"00024128"	"10"	"1509"	"0"	"1509"	"0"	"c.1509A>G"	"r.(?)"	"p.(Lys503=)"	""
"0000525858"	"00025633"	"30"	"1452"	"8"	"1452"	"8"	"c.1452+8T>C"	"r.(=)"	"p.(=)"	""
"0000525858"	"00024128"	"30"	"1269"	"8"	"1269"	"8"	"c.1269+8T>C"	"r.(=)"	"p.(=)"	""
"0000525860"	"00025633"	"30"	"1189"	"-9"	"1189"	"-9"	"c.1189-9dup"	"r.(=)"	"p.(=)"	""
"0000525860"	"00024128"	"30"	"1006"	"-9"	"1006"	"-9"	"c.1006-9dup"	"r.(=)"	"p.(=)"	""
"0000525862"	"00025633"	"30"	"809"	"-124"	"809"	"-124"	"c.809-124C>A"	"r.(=)"	"p.(=)"	""
"0000525862"	"00024128"	"30"	"626"	"-124"	"626"	"-124"	"c.626-124C>A"	"r.(=)"	"p.(=)"	""
"0000525863"	"00025633"	"90"	"689"	"0"	"689"	"0"	"c.689T>C"	"r.(?)"	"p.(Leu230Ser)"	""
"0000525863"	"00024128"	"90"	"506"	"0"	"506"	"0"	"c.506T>C"	"r.(?)"	"p.(Leu169Ser)"	""
"0000609758"	"00025633"	"50"	"456"	"-140809"	"456"	"-140809"	"c.456-140809C>T"	"r.(=)"	"p.(=)"	""
"0000609758"	"00024128"	"50"	"273"	"-140809"	"273"	"-140809"	"c.273-140809C>T"	"r.(=)"	"p.(=)"	""
"0000621580"	"00025633"	"50"	"1250"	"0"	"1250"	"0"	"c.1250A>G"	"r.(?)"	"p.(Asn417Ser)"	""
"0000621580"	"00024128"	"50"	"1067"	"0"	"1067"	"0"	"c.1067A>G"	"r.(?)"	"p.(Asn356Ser)"	""
"0000621581"	"00025633"	"30"	"402"	"0"	"402"	"0"	"c.402C>T"	"r.(?)"	"p.(Pro134=)"	""
"0000621581"	"00024128"	"30"	"272"	"95267"	"272"	"95267"	"c.272+95267C>T"	"r.(=)"	"p.(=)"	""
"0000651743"	"00025633"	"30"	"809"	"-124"	"809"	"-124"	"c.809-124C>A"	"r.(=)"	"p.(=)"	""
"0000651743"	"00024128"	"30"	"626"	"-124"	"626"	"-124"	"c.626-124C>A"	"r.(=)"	"p.(=)"	""
"0000655396"	"00025633"	"30"	"-291967"	"0"	"-291967"	"0"	"c.-291967A>G"	"r.(?)"	"p.(=)"	""
"0000655396"	"00024128"	"30"	"10"	"0"	"10"	"0"	"c.10A>G"	"r.(?)"	"p.(Asn4Asp)"	""
"0000677528"	"00025633"	"30"	"423"	"0"	"423"	"0"	"c.423G>A"	"r.(?)"	"p.(Met141Ile)"	""
"0000677528"	"00024128"	"30"	"272"	"95288"	"272"	"95288"	"c.272+95288G>A"	"r.(=)"	"p.(=)"	""
"0000686209"	"00024128"	"70"	"392"	"0"	"392"	"0"	"c.392T>C"	"r.(?)"	"p.(Leu131Pro)"	""
"0000699222"	"00024128"	"50"	"385"	"0"	"385"	"0"	"c.385T>C"	"r.(?)"	"p.(Ser129Pro)"	"2"
"0000720465"	"00025633"	"50"	"1009"	"0"	"1014"	"0"	"c.1009_1014del"	"r.(?)"	"p.(Phe337_Leu338del)"	""
"0000720465"	"00024128"	"50"	"826"	"0"	"831"	"0"	"c.826_831del"	"r.(?)"	"p.(Phe276_Leu277del)"	""
"0000720466"	"00025633"	"50"	"809"	"-22"	"809"	"-22"	"c.809-22C>T"	"r.(=)"	"p.(=)"	""
"0000720466"	"00024128"	"50"	"626"	"-22"	"626"	"-22"	"c.626-22C>T"	"r.(=)"	"p.(=)"	""
"0000720467"	"00025633"	"50"	"808"	"23265"	"808"	"23265"	"c.808+23265T>C"	"r.(=)"	"p.(=)"	""
"0000720467"	"00024128"	"50"	"625"	"23265"	"625"	"23265"	"c.625+23265T>C"	"r.(=)"	"p.(=)"	""
"0000795113"	"00025633"	"70"	"709"	"0"	"709"	"0"	"c.709C>T"	"r.(?)"	"p.(Arg237*)"	""
"0000795113"	"00024128"	"70"	"526"	"0"	"526"	"0"	"c.526C>T"	"r.(?)"	"p.(Arg176*)"	""
"0000802143"	"00025633"	"30"	"2133"	"0"	"2133"	"0"	"c.2133A>C"	"r.(?)"	"p.(Thr711=)"	""
"0000802143"	"00024128"	"30"	"1950"	"0"	"1950"	"0"	"c.1950A>C"	"r.(?)"	"p.(Thr650=)"	""
"0000802144"	"00025633"	"50"	"1804"	"0"	"1806"	"0"	"c.1804_1806del"	"r.(?)"	"p.(Leu602del)"	""
"0000802144"	"00024128"	"50"	"1621"	"0"	"1623"	"0"	"c.1621_1623del"	"r.(?)"	"p.(Leu541del)"	""
"0000802145"	"00025633"	"30"	"1353"	"0"	"1353"	"0"	"c.1353C>T"	"r.(?)"	"p.(Leu451=)"	""
"0000802145"	"00024128"	"30"	"1170"	"0"	"1170"	"0"	"c.1170C>T"	"r.(?)"	"p.(Leu390=)"	""
"0000802146"	"00025633"	"30"	"891"	"0"	"891"	"0"	"c.891G>A"	"r.(?)"	"p.(Arg297=)"	""
"0000802146"	"00024128"	"30"	"708"	"0"	"708"	"0"	"c.708G>A"	"r.(?)"	"p.(Arg236=)"	""
"0000802147"	"00025633"	"50"	"809"	"-24"	"809"	"-24"	"c.809-24C>T"	"r.(=)"	"p.(=)"	""
"0000802147"	"00024128"	"50"	"626"	"-24"	"626"	"-24"	"c.626-24C>T"	"r.(=)"	"p.(=)"	""
"0000802148"	"00025633"	"50"	"456"	"-214396"	"456"	"-214396"	"c.456-214396C>T"	"r.(=)"	"p.(=)"	""
"0000802148"	"00024128"	"50"	"273"	"-214396"	"273"	"-214396"	"c.273-214396C>T"	"r.(=)"	"p.(=)"	""
"0000802149"	"00025633"	"30"	"455"	"124769"	"455"	"124769"	"c.455+124769T>C"	"r.(=)"	"p.(=)"	""
"0000802149"	"00024128"	"30"	"272"	"220089"	"272"	"220089"	"c.272+220089T>C"	"r.(=)"	"p.(=)"	""
"0000839988"	"00025633"	"50"	"1459"	"0"	"1459"	"0"	"c.1459T>C"	"r.(?)"	"p.(Phe487Leu)"	""
"0000850931"	"00025633"	"30"	"2235"	"0"	"2235"	"0"	"c.2235G>T"	"r.(?)"	"p.(Glu745Asp)"	""
"0000850931"	"00024128"	"30"	"2052"	"0"	"2052"	"0"	"c.2052G>T"	"r.(?)"	"p.(Glu684Asp)"	""
"0000850932"	"00025633"	"50"	"1930"	"0"	"1930"	"0"	"c.1930C>T"	"r.(?)"	"p.(Arg644Cys)"	""
"0000850932"	"00024128"	"50"	"1747"	"0"	"1747"	"0"	"c.1747C>T"	"r.(?)"	"p.(Arg583Cys)"	""
"0000850933"	"00025633"	"10"	"1288"	"-8"	"1288"	"-8"	"c.1288-8dup"	"r.(=)"	"p.(=)"	""
"0000850933"	"00024128"	"10"	"1105"	"-8"	"1105"	"-8"	"c.1105-8dup"	"r.(=)"	"p.(=)"	""
"0000850934"	"00025633"	"10"	"1189"	"-10"	"1189"	"-9"	"c.1189-10_1189-9del"	"r.(=)"	"p.(=)"	""
"0000850934"	"00024128"	"10"	"1006"	"-10"	"1006"	"-9"	"c.1006-10_1006-9del"	"r.(=)"	"p.(=)"	""
"0000850935"	"00025633"	"30"	"312"	"0"	"312"	"0"	"c.312C>G"	"r.(?)"	"p.(Val104=)"	""
"0000850935"	"00024128"	"30"	"272"	"95177"	"272"	"95177"	"c.272+95177C>G"	"r.(=)"	"p.(=)"	""
"0000859976"	"00025633"	"50"	"1199"	"0"	"1199"	"0"	"c.1199A>T"	"r.(?)"	"p.(Asp400Val)"	""
"0000859976"	"00024128"	"50"	"1016"	"0"	"1016"	"0"	"c.1016A>T"	"r.(?)"	"p.(Asp339Val)"	""
"0000859977"	"00025633"	"50"	"647"	"0"	"647"	"0"	"c.647T>C"	"r.(?)"	"p.(Ile216Thr)"	""
"0000859977"	"00024128"	"50"	"464"	"0"	"464"	"0"	"c.464T>C"	"r.(?)"	"p.(Ile155Thr)"	""
"0000859978"	"00025633"	"50"	"456"	"-214326"	"456"	"-214326"	"c.456-214326G>A"	"r.(=)"	"p.(=)"	""
"0000859978"	"00024128"	"50"	"273"	"-214326"	"273"	"-214326"	"c.273-214326G>A"	"r.(=)"	"p.(=)"	""
"0000886894"	"00025633"	"50"	"1705"	"0"	"1705"	"0"	"c.1705A>C"	"r.(?)"	"p.(Ile569Leu)"	""
"0000886894"	"00024128"	"50"	"1522"	"0"	"1522"	"0"	"c.1522A>C"	"r.(?)"	"p.(Ile508Leu)"	""
"0000924363"	"00025633"	"30"	"235"	"0"	"235"	"0"	"c.235C>T"	"r.(?)"	"p.(Pro79Ser)"	""
"0000924363"	"00024128"	"30"	"272"	"95100"	"272"	"95100"	"c.272+95100C>T"	"r.(=)"	"p.(=)"	""
"0000963642"	"00025633"	"30"	"1197"	"0"	"1197"	"0"	"c.1197A>G"	"r.(?)"	"p.(=)"	""
"0000963642"	"00024128"	"30"	"1014"	"0"	"1014"	"0"	"c.1014A>G"	"r.(?)"	"p.(=)"	""
"0000963643"	"00025633"	"30"	"922"	"-6094"	"922"	"-6089"	"c.922-6094_922-6089dup"	"r.(=)"	"p.(=)"	""
"0000963643"	"00024128"	"30"	"739"	"-6094"	"739"	"-6089"	"c.739-6094_739-6089dup"	"r.(=)"	"p.(=)"	""
"0000963644"	"00025633"	"10"	"922"	"-6090"	"922"	"-6089"	"c.922-6090_922-6089dup"	"r.(=)"	"p.(=)"	""
"0000963644"	"00024128"	"10"	"739"	"-6090"	"739"	"-6089"	"c.739-6090_739-6089dup"	"r.(=)"	"p.(=)"	""
"0000963645"	"00025633"	"30"	"808"	"23259"	"808"	"23259"	"c.808+23259C>T"	"r.(=)"	"p.(=)"	""
"0000963645"	"00024128"	"30"	"625"	"23259"	"625"	"23259"	"c.625+23259C>T"	"r.(=)"	"p.(=)"	""
"0000963646"	"00025633"	"30"	"456"	"-140808"	"456"	"-140808"	"c.456-140808G>A"	"r.(=)"	"p.(=)"	""
"0000963646"	"00024128"	"30"	"273"	"-140808"	"273"	"-140808"	"c.273-140808G>A"	"r.(=)"	"p.(=)"	""
"0000963647"	"00025633"	"30"	"456"	"-214326"	"456"	"-214326"	"c.456-214326G>A"	"r.(=)"	"p.(=)"	""
"0000963647"	"00024128"	"30"	"273"	"-214326"	"273"	"-214326"	"c.273-214326G>A"	"r.(=)"	"p.(=)"	""
"0000963648"	"00025633"	"30"	"456"	"-214464"	"456"	"-214464"	"c.456-214464G>A"	"r.(=)"	"p.(=)"	""
"0000963648"	"00024128"	"30"	"273"	"-214464"	"273"	"-214464"	"c.273-214464G>A"	"r.(=)"	"p.(=)"	""
"0000963649"	"00025633"	"30"	"455"	"306829"	"455"	"306829"	"c.455+306829T>C"	"r.(=)"	"p.(=)"	""
"0000963649"	"00024128"	"30"	"273"	"-370372"	"273"	"-370372"	"c.273-370372T>C"	"r.(=)"	"p.(=)"	""
"0000963650"	"00025633"	"10"	"455"	"306778"	"455"	"306784"	"c.455+306778_455+306784del"	"r.(=)"	"p.(=)"	""
"0000963650"	"00024128"	"10"	"273"	"-370423"	"273"	"-370417"	"c.273-370423_273-370417del"	"r.(=)"	"p.(=)"	""
"0000963651"	"00025633"	"30"	"455"	"124934"	"455"	"124934"	"c.455+124934G>T"	"r.(=)"	"p.(=)"	""
"0000963651"	"00024128"	"30"	"272"	"220254"	"272"	"220254"	"c.272+220254G>T"	"r.(=)"	"p.(=)"	""
"0000963652"	"00025633"	"30"	"393"	"0"	"393"	"0"	"c.393C>T"	"r.(?)"	"p.(Gly131=)"	""
"0000963652"	"00024128"	"30"	"272"	"95258"	"272"	"95258"	"c.272+95258C>T"	"r.(=)"	"p.(=)"	""
"0000963653"	"00025633"	"30"	"390"	"0"	"390"	"0"	"c.390C>T"	"r.(?)"	"p.(=)"	""
"0000963653"	"00024128"	"30"	"272"	"95255"	"272"	"95255"	"c.272+95255C>T"	"r.(=)"	"p.(=)"	""
"0000963654"	"00025633"	"30"	"336"	"0"	"336"	"0"	"c.336C>T"	"r.(?)"	"p.(Thr112=)"	""
"0000963654"	"00024128"	"30"	"272"	"95201"	"272"	"95201"	"c.272+95201C>T"	"r.(=)"	"p.(=)"	""
"0000976815"	"00025633"	"30"	"2396"	"0"	"2396"	"0"	"c.2396C>G"	"r.(?)"	"p.(Ala799Gly)"	""
"0000976815"	"00024128"	"30"	"2213"	"0"	"2213"	"0"	"c.2213C>G"	"r.(?)"	"p.(Ala738Gly)"	""
"0000976816"	"00025633"	"30"	"1288"	"-8"	"1288"	"-8"	"c.1288-8dup"	"r.(=)"	"p.(=)"	""
"0000976816"	"00024128"	"30"	"1105"	"-8"	"1105"	"-8"	"c.1105-8dup"	"r.(=)"	"p.(=)"	""
"0000976817"	"00025633"	"50"	"1006"	"0"	"1006"	"0"	"c.1006A>C"	"r.(?)"	"p.(Thr336Pro)"	""
"0000976817"	"00024128"	"50"	"823"	"0"	"823"	"0"	"c.823A>C"	"r.(?)"	"p.(Thr275Pro)"	""
"0000976818"	"00025633"	"30"	"891"	"0"	"891"	"0"	"c.891G>A"	"r.(?)"	"p.(Arg297=)"	""
"0000976818"	"00024128"	"30"	"708"	"0"	"708"	"0"	"c.708G>A"	"r.(?)"	"p.(Arg236=)"	""
"0000976819"	"00025633"	"50"	"456"	"-214389"	"456"	"-214389"	"c.456-214389C>T"	"r.(=)"	"p.(=)"	""
"0000976819"	"00024128"	"50"	"273"	"-214389"	"273"	"-214389"	"c.273-214389C>T"	"r.(=)"	"p.(=)"	""
"0000976820"	"00025633"	"30"	"456"	"-239106"	"456"	"-239106"	"c.456-239106A>G"	"r.(=)"	"p.(=)"	""
"0000976820"	"00024128"	"30"	"273"	"-239106"	"273"	"-239106"	"c.273-239106A>G"	"r.(=)"	"p.(=)"	""
"0000976821"	"00025633"	"30"	"152"	"0"	"152"	"0"	"c.152T>C"	"r.(?)"	"p.(Leu51Pro)"	""
"0000976821"	"00024128"	"30"	"272"	"95017"	"272"	"95017"	"c.272+95017T>C"	"r.(=)"	"p.(=)"	""
"0000976822"	"00025633"	"50"	"-95095"	"0"	"-95095"	"0"	"c.-95095G>A"	"r.(?)"	"p.(=)"	""
"0000976822"	"00024128"	"50"	"43"	"0"	"43"	"0"	"c.43G>A"	"r.(?)"	"p.(Ala15Thr)"	""
"0000995104"	"00025633"	"30"	"2254"	"0"	"2254"	"0"	"c.2254A>G"	"r.(?)"	"p.(Ser752Gly)"	""
"0000995104"	"00024128"	"30"	"2071"	"0"	"2071"	"0"	"c.2071A>G"	"r.(?)"	"p.(Ser691Gly)"	""
"0000995105"	"00025633"	"50"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727Trp)"	""
"0000995105"	"00024128"	"50"	"1996"	"0"	"1996"	"0"	"c.1996C>T"	"r.(?)"	"p.(Arg666Trp)"	""
"0000995106"	"00025633"	"50"	"1462"	"0"	"1462"	"0"	"c.1462A>G"	"r.(?)"	"p.(Thr488Ala)"	""
"0000995106"	"00024128"	"50"	"1279"	"0"	"1279"	"0"	"c.1279A>G"	"r.(?)"	"p.(Thr427Ala)"	""
"0000995107"	"00025633"	"30"	"456"	"-140809"	"456"	"-140809"	"c.456-140809C>T"	"r.(=)"	"p.(=)"	""
"0000995107"	"00024128"	"30"	"273"	"-140809"	"273"	"-140809"	"c.273-140809C>T"	"r.(=)"	"p.(=)"	""
"0000995108"	"00025633"	"30"	"456"	"-214391"	"456"	"-214391"	"c.456-214391C>G"	"r.(=)"	"p.(=)"	""
"0000995108"	"00024128"	"30"	"273"	"-214391"	"273"	"-214391"	"c.273-214391C>G"	"r.(=)"	"p.(=)"	""
"0000995109"	"00025633"	"30"	"455"	"306803"	"455"	"306803"	"c.455+306803G>A"	"r.(=)"	"p.(=)"	""
"0000995109"	"00024128"	"30"	"273"	"-370398"	"273"	"-370398"	"c.273-370398G>A"	"r.(=)"	"p.(=)"	""
"0000995110"	"00025633"	"30"	"455"	"124787"	"455"	"124787"	"c.455+124787C>T"	"r.(=)"	"p.(=)"	""
"0000995110"	"00024128"	"30"	"272"	"220107"	"272"	"220107"	"c.272+220107C>T"	"r.(=)"	"p.(=)"	""
"0000995111"	"00025633"	"50"	"284"	"0"	"284"	"0"	"c.284A>T"	"r.(?)"	"p.(Tyr95Phe)"	""
"0000995111"	"00024128"	"50"	"272"	"95149"	"272"	"95149"	"c.272+95149A>T"	"r.(=)"	"p.(=)"	""
"0000995112"	"00025633"	"30"	"-94984"	"0"	"-94984"	"0"	"c.-94984G>A"	"r.(?)"	"p.(=)"	""
"0000995112"	"00024128"	"30"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Ala52Thr)"	""
"0001014140"	"00025633"	"30"	"1189"	"-17"	"1189"	"-17"	"c.1189-17T>C"	"r.(=)"	"p.(=)"	""
"0001014140"	"00024128"	"30"	"1006"	"-17"	"1006"	"-17"	"c.1006-17T>C"	"r.(=)"	"p.(=)"	""
"0001014141"	"00025633"	"30"	"922"	"-6092"	"922"	"-6089"	"c.922-6092_922-6089dup"	"r.(=)"	"p.(=)"	""
"0001014141"	"00024128"	"30"	"739"	"-6092"	"739"	"-6089"	"c.739-6092_739-6089dup"	"r.(=)"	"p.(=)"	""
"0001014142"	"00025633"	"30"	"809"	"-116"	"809"	"-116"	"c.809-116T>C"	"r.(=)"	"p.(=)"	""
"0001014142"	"00024128"	"30"	"626"	"-116"	"626"	"-116"	"c.626-116T>C"	"r.(=)"	"p.(=)"	""
"0001035248"	"00025633"	"30"	"1930"	"0"	"1930"	"0"	"c.1930C>T"	"r.(?)"	"p.(Arg644Cys)"	""
"0001035248"	"00024128"	"30"	"1747"	"0"	"1747"	"0"	"c.1747C>T"	"r.(?)"	"p.(Arg583Cys)"	""
"0001035249"	"00025633"	"50"	"1914"	"0"	"1914"	"0"	"c.1914A>G"	"r.(?)"	"p.(Ile638Met)"	""
"0001035249"	"00024128"	"50"	"1731"	"0"	"1731"	"0"	"c.1731A>G"	"r.(?)"	"p.(Ile577Met)"	""
"0001035250"	"00025633"	"50"	"1495"	"0"	"1495"	"0"	"c.1495A>G"	"r.(?)"	"p.(Ser499Gly)"	""
"0001035250"	"00024128"	"50"	"1312"	"0"	"1312"	"0"	"c.1312A>G"	"r.(?)"	"p.(Ser438Gly)"	""
"0001035251"	"00025633"	"30"	"1167"	"0"	"1167"	"0"	"c.1167A>T"	"r.(?)"	"p.(Glu389Asp)"	""
"0001035251"	"00024128"	"30"	"984"	"0"	"984"	"0"	"c.984A>T"	"r.(?)"	"p.(Glu328Asp)"	""
"0001035252"	"00025633"	"30"	"922"	"-151"	"922"	"-151"	"c.922-151T>C"	"r.(=)"	"p.(=)"	""
"0001035252"	"00024128"	"30"	"739"	"-151"	"739"	"-151"	"c.739-151T>C"	"r.(=)"	"p.(=)"	""
"0001035253"	"00025633"	"30"	"808"	"23259"	"808"	"23259"	"c.808+23259C>T"	"r.(=)"	"p.(=)"	""
"0001035253"	"00024128"	"30"	"625"	"23259"	"625"	"23259"	"c.625+23259C>T"	"r.(=)"	"p.(=)"	""
"0001035254"	"00025633"	"30"	"456"	"-1721"	"456"	"-1721"	"c.456-1721G>A"	"r.(=)"	"p.(=)"	""
"0001035254"	"00024128"	"30"	"273"	"-1721"	"273"	"-1721"	"c.273-1721G>A"	"r.(=)"	"p.(=)"	""
"0001035255"	"00025633"	"30"	"456"	"-140959"	"456"	"-140959"	"c.456-140959G>A"	"r.(=)"	"p.(=)"	""
"0001035255"	"00024128"	"30"	"273"	"-140959"	"273"	"-140959"	"c.273-140959G>A"	"r.(=)"	"p.(=)"	""
"0001035256"	"00025633"	"30"	"456"	"-214396"	"456"	"-214396"	"c.456-214396C>T"	"r.(=)"	"p.(=)"	""
"0001035256"	"00024128"	"30"	"273"	"-214396"	"273"	"-214396"	"c.273-214396C>T"	"r.(=)"	"p.(=)"	""
"0001035257"	"00025633"	"30"	"455"	"124679"	"455"	"124679"	"c.455+124679C>T"	"r.(=)"	"p.(=)"	""
"0001035257"	"00024128"	"30"	"272"	"219999"	"272"	"219999"	"c.272+219999C>T"	"r.(=)"	"p.(=)"	""
"0001035258"	"00025633"	"50"	"-95008"	"0"	"-95008"	"0"	"c.-95008C>T"	"r.(?)"	"p.(=)"	""
"0001035258"	"00024128"	"50"	"130"	"0"	"130"	"0"	"c.130C>T"	"r.(?)"	"p.(Arg44Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 44
"{{screeningid}}"	"{{variantid}}"
"0000064829"	"0000096465"
"0000064830"	"0000096466"
"0000064831"	"0000096467"
"0000064832"	"0000096468"
"0000064833"	"0000096469"
"0000064834"	"0000096470"
"0000064835"	"0000096471"
"0000064836"	"0000096472"
"0000064837"	"0000096473"
"0000064838"	"0000096474"
"0000064839"	"0000096475"
"0000064840"	"0000096476"
"0000080824"	"0000129873"
"0000080825"	"0000129874"
"0000080826"	"0000129876"
"0000080828"	"0000129879"
"0000080836"	"0000129893"
"0000080837"	"0000129895"
"0000080872"	"0000129930"
"0000080873"	"0000129931"
"0000080874"	"0000129932"
"0000080875"	"0000129933"
"0000080876"	"0000129934"
"0000080877"	"0000129935"
"0000080878"	"0000129936"
"0000080880"	"0000129937"
"0000080881"	"0000129939"
"0000080882"	"0000129940"
"0000080883"	"0000129941"
"0000080884"	"0000129942"
"0000080885"	"0000129943"
"0000100747"	"0000163113"
"0000100778"	"0000163152"
"0000100779"	"0000163153"
"0000100780"	"0000163154"
"0000100781"	"0000163155"
"0000100782"	"0000163156"
"0000100783"	"0000163157"
"0000100784"	"0000163158"
"0000132785"	"0000221969"
"0000295054"	"0000651743"
"0000311033"	"0000686209"
"0000317039"	"0000699222"
"0000381623"	"0000795113"